Varaico: Literature-Extracted Genetic Variants

SETD1B

243 papers

RefSeq Summary

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008].

Pfam Domains

RRM_1aa 108–175UCSCRNA recognition motif

N-SETaa 1679–1821UCSCCOMPASS (Complex proteins associated with Set1p) component N

SETaa 1838–1944UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 1B, histone lysine methyltransferase

HGNC Alias Symbols

KIAA1076; Set1B; KMT2G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001353345.2

p.A800T

c.2398G>A

Surrounding Variants

1 paper

NM_001353345.2

p.A801V

c.2402C>T

1 paper

NM_001353345.2

p.M798I

c.2394G>A

1 paper

NM_001353345.2

p.M798I

c.2394G>C

1 paper

NM_001353345.2

p.M798I

c.2394G>T

1 paper

NM_001353345.2

p.A803T

c.2407G>A

1 paper

NM_001353345.2

p.A804T

c.2410G>A

2 papers

NM_001353345.2

p.P793R

c.2378C>G

4 papers

NM_001353345.2

p.A807V

c.2420C>T

1 paper

NM_001353345.2

p.L809L

c.2427C>T

1 paper

NM_001353345.2

p.P816delFs

c.2448delC

1 paper

NM_001353345.2

p.P816P

c.2448C>G

1 paper

NM_001353345.2

p.T779M

c.2336C>T